ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)

gnomAD frequency: 0.00001  dbSNP: rs756511227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375383 SCV001571816 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting
GeneDx RCV001563298 SCV001786213 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; Acke et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25240749)
Labcorp Genetics (formerly Invitae), Labcorp RCV001563298 SCV004637135 benign not provided 2023-01-14 criteria provided, single submitter clinical testing

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